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32 Cards in this Set
- Front
- Back
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What types of abnormalities can a Karyotype detect?
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Major chromosomal abnormality
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What types of abnormalities can FISH detect?
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KNOWN microdeletion or duplication
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What test can detect trisomies?
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Karyotype (Na+ Heparin)
CHROMOSOMAL ABNORMALITY! |
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What test can detect Turner Syndrome?
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XO: Karyotype (Na+ Heparin)
CHROMOSOMAL ABNORMALITY! |
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What test can detect Klinefelter Syndrome?
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XXY: Karyotype
CHROMOSOMAL ABNORMALITY! |
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What type of abnormalities can microarrays detect?
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UNKNOWN microdeletions or duplications (EDTA)
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What type of abnormalities can a single gene disorder test detect?
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Changes in gene sequence
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What test can detect Marfan Syndrome?
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Single Gene Disorder
EDTA |
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What test can detect Neurofibromatosis?
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Single Gene Disorder
EDTA |
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What test can detect achondroplasia?
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Single Gene Disorder
EDTA |
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What test should be used to assess global developmental delays?
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Microarray for unknown microdeletions or duplications; followed by a FISH
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What test should be used to assess congenital abnormalities?
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Microarray for unknown microdeletions or duplications; followed by a FISH
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What genetic test has the highest yield in diagnosis of mental retardation?
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Mircoarray
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If a child presented with cleft palate and polydactyly, what genetic test would you order?
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Sounds like Trisomy 13, so order a Karyotype
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If a patient presented with multiple miscarriages, what genetic test would you order?
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Might be balanced translocation, so order a Karyotype.
NOT A MIRCOARRAY! Microarrays can only determine whether information is missing/added, no whether it's a translocation or not. |
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If a microarray reports a copy number variant with unknown diagnostic significance, what should you do?
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Research the copy number variant in the literature, call the lab
If still uncertain, consider parental testing |
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If a child is generally healthy and exhibits normal intelligence, are you required to perform a genetic test?
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NO! Not always.
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Williams Syndrome
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microdeletion
Dysmorphic facial features Infantile HYPERcalcemia Gregarious Premature aging of skin MR |
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22q11 deletion
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Microdeletion
Velocardiofacial syndrome Cleft palate Thymic hypoplasia HYPOcalcemia coriotruncal heart defect |
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How many bases is the human genome? What is karyotype resolution?
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Human Genome: 3000 megabases
Karyotype Resoln: 5-10 megabases |
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What is the difference between a major and minor anomaly?
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Major: Significant cosmetic, medical, and surgical consequence (congenital heart disease, cataract, hernia)
Minor: Insifnigifance consequence, multiple anomalies may be suggestive of a syndrome, ex: Palmar crease, overlapping toes, polydactyly |
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What is a malformation?
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Defect from abnormal developmental process (congenital heart disease, cleft lip/palate)
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What is a deformation?
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Normal development, mechanistic forces cause problem
Plagiocephaly (flat head) due to positioning |
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What is disruption?
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Development process normal but interrupted
Ex: amniotic bands (with hands/feet) |
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What is dysplasia?
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Abnormal tissue organization, microscopic structure (embryonic)
Ex: malformation of ectoderm |
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What is association?
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Non-random group of congenital anomalies; if know the gene, can be called a syndrome
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In Duchenne muscular dystrophy, what is the affected protein? What kind of disorder (genetic classification) is it?
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Dystrohin is affected (missing) protein; leads to breakdown of sarcolemma
DMD is X-linked lethal |
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What is VACTER and how is it diagnosed?
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Need at least three of these associative symptoms (unknown gene):
Vertebral anomaly Anal atresia Cardiac TE fistula Radial ray/renal anomaly |
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If a female has a 50% chance of being a carrier, what is the percent change their child will be affected with hemophilia?
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Hemophilia: X-linked R
X-Xa x X-Y: XX, XaY, XY, XaY 1/4 * 1/2 = 1/8 chance |
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What is the recurrence risk for having a sibling with multifactorial malformations?
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3-5%
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Cytogenetic disorders are present in how many live births?
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1:200 live births
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What is the affected protein in Huntington's Disease? What is the genetic classification of this disease?
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Huntingtin (due to repeat CAG)
AD SYMPTOMS undergo genetic anticipation (amplification) Early symptoms: depression, psych symptoms Chorea (involuntary movements) Severe motor impairment |
